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A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.
Features include: Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, and Chronic myelogenous leukemia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Reduced leukocyte alkaline phosphatase |
ABL1 encodes ABL proto-oncogene 1, non-receptor tyrosine kinase (1,130 aa). Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Highest expression in Colon Sigmoid (166.1 TPM) and Uterus (138.1 TPM).
Chronic myelogenous leukemia, BCR-ABL1 positive is associated with mutations in the ABL1 gene on chromosome 9.
ABL1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, Tumor Suppressor, and Tyrosine Kinase categories) with score 1.3.
22 pathogenic variants reported in ABL1 in ClinVar.
Genetic testing for ABL1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for chronic myelogenous leukemia, BCR-ABL1 positive has been reported in the published literature.
9 FDA-approved treatments are available for chronic myelogenous leukemia, BCR-ABL1 positive, including NILOTINIB (TASIGNA, approved 2007), ASCIMINIB (SCEMBLIX, approved 2021), and IMATINIB MESYLATE (GLEEVEC, approved 2003). An additional 26 compounds hold orphan drug designation.
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
NILOTINIB | NILOTINIB | — | 2025 | Available |
DANZITEN | NILOTINIB | — | 2024 | Available |
PHYRAGO | DASATINIB | — | 2023 | Available |
BOSULIF | BOSUTINIB | — | 2023 | Available |
CYCLOPHOSPHAMIDE | CYCLOPHOSPHAMIDE INJECTION, SOLUTION | — | 2023 | Available |
FRINDOVYX | CYCLOPHOSPHAMIDE | — | 2023 | Available |
SCEMBLIX | ASCIMINIB | — | 2021 | Available |
SYNRIBO | — | — | 2012 | Available |
TASIGNA | NILOTINIB | — | 2007 | Available |
DASATINIB | DASATINIB | — | 2006 | Available |
GLEEVEC | IMATINIB MESYLATE | — | 2003 | Available |
BUSULFEX | BUSULFAN | — | 1999 | Available |
MYLERAN | BUSULFAN | — | 1954 | Available |
The following drugs have received orphan drug designation from the FDA for chronic myelogenous leukemia, BCR-ABL1 positive. Orphan designation reflects regulatory interest and does not indicate approval for treatment.
Brand Name | Generic Name | Sponsor | Designated | Exclusivity End | Designation Status |
|---|---|---|---|---|---|
small molecule inhibitor of bcr-abl tyrosine kinase | small molecule inhibitor of bcr-abl tyrosine kinase | Enliven Therapeutics, Inc. | 2024 | — | Designated |
Small molecule inhibitor of the bcr-abl tyrosine kinase | Small molecule inhibitor of the bcr-abl tyrosine kinase | Terns, Inc. | 2024 | — | Designated |
173 trials found
Estimated prevalence: 1-9 in 100,000 (Uncommon).
173 clinical trials registered, 61 recruiting. Interventions under study include drug therapy, other interventions, procedural interventions, and biologic therapy. Pipeline includes 2 PHASE4, 10 PHASE3, 69 PHASE2. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT02727803](https://clinicaltrials.gov/study/NCT02727803) | Personalized NK Cell Therapy in CBT | PHASE2 | M.D. Anderson Cancer Center | RECRUITING |
[NCT05805605](https://clinicaltrials.gov/study/NCT05805605) | Allo HSCT Using RIC and PTCy for Hematological Diseases | PHASE2 | Masonic Cancer Center, University of Minnesota | RECRUITING |
[NCT07020533](https://clinicaltrials.gov/study/NCT07020533) | A Vaccine (CMV-MVA Triplex Vaccine) for the Enhancement of CMV-Specific Immunity and the Prevention of CMV Viremia in Patients Undergoing Haploidentical Hematopoietic Stem Cell Transplant | PHASE1 | City of Hope Medical Center | RECRUITING |
[NCT01890486](https://clinicaltrials.gov/study/NCT01890486) | The Prospective Collection, Storage and Reporting of Data on Patients Undergoing Hematopoietic Stem Cell Transplantation Utilizing a Standard Preparative Regimen | — | Wake Forest University Health Sciences | RECRUITING |
[NCT07354074](https://clinicaltrials.gov/study/NCT07354074) | Study to Determine the Efficacy and Safety of Asciminib in Pediatric Patients With Ph+ CML-CP | PHASE2 | Novartis Pharmaceuticals | RECRUITING |
13 publications have been identified in PubMed for chronic myelogenous leukemia, BCR-ABL1 positive. Research spans Review / Meta-Analysis (31%), Case Report / Case Series (31%), and Epidemiology / Natural History (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 | 31% |
Patient case studies | 4 | 31% |
Disease patterns and progression | 2 | 15% |
Other research | 1 | 8% |
Testing and diagnosis research | 1 | 8% |
Clinical study results | 1 |
Sato I (2026). [PMID: 41905906](https://pubmed.ncbi.nlm.nih.gov/41905906/). *Rinsho Ketsueki*. [Clinical Trial Publication]
Zou Y (2026). [PMID: 42402589](https://pubmed.ncbi.nlm.nih.gov/42402589/). *J Nanobiotechnology*. [Diagnostic / Biomarker]
Sun C (2026). [PMID: 42174991](https://pubmed.ncbi.nlm.nih.gov/42174991/). *Stud Health Technol Inform*. [Other]
Yokoyama S (2026). [PMID: 42020684](https://pubmed.ncbi.nlm.nih.gov/42020684/). *Int J Hematol*. [Epidemiology / Natural History]
Jajosky AN (2025). [PMID: 40371899](https://pubmed.ncbi.nlm.nih.gov/40371899/). *Haematologica*. [Review / Meta-Analysis]
Maher P (2025). [PMID: 40618562](https://pubmed.ncbi.nlm.nih.gov/40618562/). *Cancer Genet*. [Case Report / Case Series]
Sundaresan D (2025). [PMID: 38975676](https://pubmed.ncbi.nlm.nih.gov/38975676/). *Indian J Pathol Microbiol*. [Case Report / Case Series]
Dabrowski DS (2025). [PMID: 41063870](https://pubmed.ncbi.nlm.nih.gov/41063870/). *Case Rep Oncol*. [Case Report / Case Series]
Mughal TI (2025). [PMID: 39825826](https://pubmed.ncbi.nlm.nih.gov/39825826/). *Hematol Oncol*. [Review / Meta-Analysis]
Zhang X (2025). [PMID: 40779457](https://pubmed.ncbi.nlm.nih.gov/40779457/). *Clin Lab*. [Review / Meta-Analysis]
Data assembled from 9 of 12 sources · Last updated Oct 4, 2026, 6:01 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Ubenimex |
RNR BioMedical inc |
2021 |
— |
Designated |
olverembatinib | olverembatinib | Ascentage Pharma Group Inc. | 2020 | — | Designated |
4-Methyl-3-quinolin-3-ylethynylbenzoic acid N'-(2-chloro-6- methylbenzoyl) hydrazide | 4-Methyl-3-quinolin-3-ylethynylbenzoic acid N'-(2-chloro-6- methylbenzoyl) hydrazide | Sun Pharma Advanced Research Company Ltd. | 2019 | — | Designated |
Methanesulfonate-1-sec-butoxycarbonyloxymethyl-1-methyl-4-{4-[4-methyl-3-(4-pyridin-3-yl-pyrimidin-2-ylamino)-phenylcarbamoyl]-benzyl}-piperazin-1-ium | Methanesulfonate-1-sec-butoxycarbonyloxymethyl-1-methyl-4-{4-[4-methyl-3-(4-pyridin-3-yl-pyrimidin-2-ylamino)-phenylcarbamoyl]-benzyl}-piperazin-1-ium | Inhibikase Therapeutics, Inc. | 2018 | — | Designated |
oral tyrosine kinase inhibitor | oral tyrosine kinase inhibitor | Fusion Pharma, LLC | 2017 | — | Designated |
NiCord (cord blood-derived exvivo expanded CD34+ cells and the non-expanded cell fraction of the same cord blood unit) | NiCord (cord blood-derived exvivo expanded CD34+ cells and the non-expanded cell fraction of the same cord blood unit) | Gamida Cell Ltd. | 2016 | — | Withdrawn |
tetrandrine | tetrandrine | Escend Pharmaceuticals, Inc. | 2016 | — | Designated |
4-[2-(3-Propyl-[1,2,4]0xadiazol-5-yl)-vinyl]-benzene-1,2-diol | 4-[2-(3-Propyl-[1,2,4]0xadiazol-5-yl)-vinyl]-benzene-1,2-diol | Piramal Enterprises Limited | 2011 | — | Designated |
(3,5-Bis trifluoromethyl)-N-[4-methyl-3-(4-pyridin-3yl-pyrimidin-2-yl amino) phenyl] benzamide | (3,5-Bis trifluoromethyl)-N-[4-methyl-3-(4-pyridin-3yl-pyrimidin-2-yl amino) phenyl] benzamide | NATCO Pharma Limited | 2011 | — | Designated |
Replication-incompetent GM-CSF-expressing gene-modified allogeneic chronic myeloid leukemia cancer cell lines | Replication-incompetent GM-CSF-expressing gene-modified allogeneic chronic myeloid leukemia cancer cell lines | Aduro BioTech, Inc. | 2010 | — | Withdrawn |
Iclusig | ponatinib | Takeda Pharmaceuticals U.S.A., Inc. | 2009 | 2019 | Designated (drug approved for other indication) |
N-[3-(4',5'-bipyrimidin-2-ylamino)-4-methylphenyl]-4-{[(3S)-3-(dimethylamino)pyrrolidin-1-yl]methyl}-3-(trifluoromethyl)benzamide | N-[3-(4',5'-bipyrimidin-2-ylamino)-4-methylphenyl]-4-{[(3S)-3-(dimethylamino)pyrrolidin-1-yl]methyl}-3-(trifluoromethyl)benzamide | CytRx Corporation | 2006 | — | Designated |
Synribo | omacetaxine mepesuccinate | IVAX International GmbH | 2006 | 2019 | Designated (drug approved for other indication) |
c-myb antisense oligodeoxynucleotide | c-myb antisense oligodeoxynucleotide | Genta, Inc. | 2005 | — | Withdrawn |
Nine amino acid polypeptide derived from proteinase 3 | Nine amino acid polypeptide derived from proteinase 3 | The Vaccine Company | 2004 | — | Designated |
17-allylamino-17-demethoxygeldanamycin (17-AGG) | 17-allylamino-17-demethoxygeldanamycin (17-AGG) | Bristol-Myers Squibb Company | 2004 | — | Designated |
liposomal p-ethoxy growth receptor bound protein-2 antisense product | liposomal p-ethoxy growth receptor bound protein-2 antisense product | Bio-Path, Inc. | 2003 | — | Designated |
4,5-dibromorhodamine 123 | 4,5-dibromorhodamine 123 | Kiadis Pharma Canada, Inc. | 2003 | — | Withdrawn |
arsenic trioxide | arsenic trioxide | Teva Branded Pharmaceutical Products R&D, Inc. | 2001 | — | Withdrawn |
Tiazofurin (2-Beta-D-ribofuranosyl-4-thiazolecarboxamide) | Tiazofurin (2-Beta-D-ribofuranosyl-4-thiazolecarboxamide) | Valeant Pharmaceuticals North America | 2000 | — | Designated |
decitabine | decitabine | Otsuka Pharmaceutical Development & | 1999 | — | Withdrawn |
Idarubicin | Idarubicin | Pharmacia & Upjohn | 1992 | — | Withdrawn |
Roferon A | Interferon alfa-2a | Hoffmann-La Roche, Inc. | 1989 | 2002 | Withdrawn |
Interferon alfa-2b (recombinant) | Interferon alfa-2b (recombinant) | Schering Corporation | 1987 | — | Withdrawn |